chr3:48590581:G>A Detail (hg38) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,628,014-48,628,014 View the variant detail on this assembly version. |
| hg38 | chr3:48,590,581-48,590,581 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.1784C>T | NP_000085.1:p.Pro595Leu |
| Ensemble | ENST00000328333.12:c.1784C>T | ENST00000328333.12:p.Pro595Leu |
| ENST00000681320.1:c.1784C>T | ENST00000681320.1:p.Pro595Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.020 |
| ToMMo:0.015 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.026 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2018-01-13 | criteria provided, single submitter | epidermolysis bullosa dystrophica |
germline
|
Detail |
|
Benign
|
2018-05-31 | criteria provided, single submitter | recessive dystrophic epidermolysis bullosa |
unknown
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.458 | Hallopeau-Siemens Disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) AND not specified | ClinVar | Detail |
| NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) AND Epidermolysis bullosa dystrophica | ClinVar | Detail |
| NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) AND Recessive dystrophic epidermolysis bullosa | ClinVar | Detail |
| NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2228561 dbSNP
- Genome
- hg38
- Position
- chr3:48,590,581-48,590,581
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 141.46
- Standard deviation of sample read depth (HGVD)
- 68.09
- Number of reference allele (HGVD)
- 2372
- Number of alternative allele (HGVD)
- 48
- Allele Frequency (HGVD)
- 0.019834710743801654
- Gene Symbol (HGVD)
- COL7A1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2228561
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0149
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 249
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 221
- East Asian Heterozygous Counts (ExAC)
- 215
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.02554322699953768
- Chromosome Counts in All Race (ExAC)
- 121292
- Allele Counts in All Race (ExAC)
- 14453
- Heterozygous Counts in All Race (ExAC)
- 12369
- Homozygous Counts in All Race (ExAC)
- 1042
- Allele Frequency in All Race (ExAC)
- 0.11915872440061999
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